ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.487G>T (p.Glu163Ter) (rs876661155)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurology Department,Peking University First Hospital RCV000408890 SCV000328585 pathogenic Charcot-Marie-Tooth disease type 2E 2016-11-01 criteria provided, single submitter clinical testing Our data expanded the clinical and genetic spectrum of NEFL-related neuropathy. The NEFL homozygous nonsense mutation c.487G>T (p.Glu163Ter) introduced a premature stop codon, and was considered to be pathogenic.

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